基因名称(Gene Name)
TGM5 TGMX
免疫原
Synthesized peptide derived from human TGM5 AA range: 448-498
特异性
This antibody detects endogenous levels of TGM5 at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009],
功能
catalytic activity:Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3).,caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,cofactor:Binds 1 calcium ion per subunit.,disease:Defects in TGM5 are a cause of peeling skin syndrome acral type (APSS) [MIM:609796, 270300]. Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the continuous shedding of the outer layers of the epidermis from birth and throughout life. In some cases of PSS, skin peeling is accompanied by erythema, vesicular lesions, or, in rare cases, other ectodermal features, like fragile hair and nail abnormalities. Two main subtypes, noninflammatory type A and inflammatory type B, have been suggested. However, it is clear from the dermatology literature that there are additional subtypes. In some f
